Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A-Reference-Cited by-同舟云学术

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

Published:2022-09-27 Issue: Volume:23 Page:
ISSN:1941-5923
Container-title:American Journal of Case Reports
language:en
Short-container-title:Am J Case Rep

Author:

Kavčič Alja¹,Homan Matjaž²,Živanović Milanka³,Debeljak Maruša⁴,Butenko Tita⁵,Drole Torkar Ana⁶,Žerjav Tanšek Mojca⁷,Bertok Sara⁶,Battelino Tadej⁶,Groselj Urh⁶

Affiliation:

1. University Children’s Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia

2. Department of Gastroenterology, Hepatology and Nutrition, University Children's Hospital Ljubljana, Ljubljana, Slovenia

3. Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

4. Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital Ljubljana, Ljubljana, Slovenia

5. Department of Pediatric Neurology, University Children’s Hospital Ljubljana, Ljubljana, Slovenia

6. Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital Ljubljana, Ljubljana, Slovenia

7. , , ,

Publisher

International Scientific Information, Inc.

Subject

General Engineering,Energy Engineering and Power Technology

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches;Cell Biochemistry and Function;2024-05-07

2. Case report of a novel variant in SMPD1 of Niemann-Pick disease type A with a liver histology from Thailand;Global Pediatrics;2024-03

3. SMPD1 gene variants in patients with β-Thalassemia major;Molecular Biology Reports;2023-02-01